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DMD Carrier Del/Dup Testing
DMD Carrier Del/Dup Testing
DMD Carrier Del/Dup Testing
This carrier screening test analyzes the DMD gene for deletions and duplications by NGS.
| Test Code | D5126 |
|---|---|
| Test Summary |
This carrier screening test analyzes the DMD gene for deletions and duplications by NGS. |
| Turn Around Time | 2 weeks |
| Acceptable Sample Types | DNA, Isolated , Dried Blood Spots , Saliva , Whole Blood (EDTA) |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | Yes |
| CPT Codes** | 81479(x1) |
**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
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Test information
Test description
This panel analyzes the DMD gene for deletions/duplications (CNV). All analysis is performed utilizing next-generation sequencing (NGS) technology. All variants are classified according to American College of Genetics and Genomics (ACMG) guidelines.
Condition description
Duchenne muscular dystrophy (DMD) is a inherited muscular dystrophy. DMD usually presents in early childhood with delayed motor milestones. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping and standing up from a squatting position. DMD is progressive with affected children being wheelchair dependent by age 12. Cardiomyopathy occurs in almost all individuals with DMD after age 18. DMD in in herited in an X linked manner. Many females who are carriers do not have any signs or symptoms of DMD. However some carriers can have symptoms of DMD including muscle weakness and heart problems. (NCBI, genereviews)
Genes
Test methods and limitations
The Agilent Sureselect DMD targeted sequence capture method was used to enrich the entire 2.2 Megabase DMD gene, which includes all exons, introns and promoter regions from this sample’s genomic DNA, followed by next-generation sequencing (NGS) with 150 base pair paired-end reads. Deletions and duplications within the DMD gene were assessed using BioDiscovery’s NxClinical v6.1 Software. Some complex variants including intragenic deletions or duplications, as well as complex rearrangements such as inversions or insertions may not be detected.
Detailed sample requirements
DNA, Isolated
| Collection |
Required DNA Quantity by Test Type*:
|
|---|---|
| Sample Condition |
* Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met. |
| Shipping |
Ship overnight at ambient temperature. |
| SPECIAL SAMPLE INSTRUCTIONS |
|
Whole Blood (EDTA)
| Collection Container(s) |
EDTA (purple top) |
|---|---|
| Collection |
Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation. |
| Sample Condition |
Store at ambient temperature. Do not refrigerate or freeze. |
| Shipping |
Ship overnight at ambient temperature ensuring receipt within 5-days of collection. |
| SPECIAL SAMPLE INSTRUCTIONS |
Clotted or hemolyzed samples are not accepted. |
Saliva
| Collection Container(s) |
Oragene™ Saliva Collection Kit or ORAcollect-Dx kit |
|---|---|
| Collection |
Collect saliva on an Oragene™ Saliva Collection Kit ORAcollect-Dx kit according to the manufacturer's instructions. |
| Sample Condition |
Store at ambient temperature. Do not refrigerate or freeze. |
| Shipping |
Ship overnight at ambient temperature. |
| SPECIAL SAMPLE INSTRUCTIONS |
Please contact Revvity Omics to request the saliva collection kit for patients who cannot provide a blood sample as whole blood is the preferred sample. Testing using Saliva swabs is currently not available for customers in India. Contact the Revvity Omics laboratory for more information. |
Dried Blood Spots
| Collection Container(s) |
Dried blood spot card |
|---|---|
| Collection |
Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.
|
| Sample Condition |
Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer. |
| Shipping |
Follow kit instructions. Double bag and ship overnight at ambient temperature. |
Resources
How To Order
Choose Your Test
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Collect Sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send Samples
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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